|
1
|
(HPO:0000219)
|
Thin upper lip vermilion |
|
|
|
|
112 / 7739
|
|
2
|
(HPO:0000400)
|
Macrotia |
|
|
|
|
108 / 7739
|
|
3
|
(HPO:0000975)
|
Hyperhidrosis |
|
|
|
|
64 / 7739
|
|
4
|
(HPO:0000982)
|
Palmoplantar keratoderma |
|
|
|
|
40 / 7739
|
|
5
|
(HPO:0001006)
|
Hypotrichosis |
|
|
|
|
219 / 7739
|
|
6
|
(HPO:0001640)
|
Cardiomegaly |
|
|
|
|
81 / 7739
|
|
7
|
(HPO:0006297)
|
Hypoplasia of dental enamel |
|
|
|
|
64 / 7739
|
|
8
|
(HPO:0007475)
|
Congenital bullous ichthyosiform erythroderma |
|
|
|
|
4 / 7739
|
|
9
|
(HPO:0007502)
|
Follicular hyperkeratosis |
|
|
|
|
12 / 7739
|
|
10
|
(OMIM)
|
Pointed nose |
|
|
|
|
2 / 7739
|
|
11
|
(OMIM)
|
Syndactyly, bilateral partial cutaneous |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Hard scaly skin |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Epidermolytic hyperkeratosis, mild |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Hypoplastic flat nails |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Yellowish fingernails |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Yellowish toenails |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Thin body hair |
|
|
|
|
3 / 7739
|
|
18
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
19
|
(HPO:0000968)
|
Ectodermal dysplasia |
|
|
|
|
46 / 7739
|